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Upcoming Webinars

Invitae patient-initiated testing: Intent, process, and outcomes thus far

Invitae patient-initiated testing: Intent, process, and outcomes thus far
Moderator: Mary Freivogel, MS, CGC (Provider Marketing Lead) Presenters: Dr. Robert Nussbaum (Chief Medical Officer), Mansi Pathak (Consumer Marketing), and Kate Lynch, MS, CGC (Genetic Counseling Services Lead)
June 25, 2019
12:30 p.m. PST - 1:30 p.m. PST
Register Now

Join Invitae and partners for a webinar presenting Invitae’s new patient-driven, telemedicine-guided genetic testing service . Topics include: Invitae’s intent and goals; a detailed demonstration of the patient experience; how we work with our partners, Genome Medical and PWN Health, to provide patients with expert clinical support; outcomes from our pilot program; and how this new process can help genetic counselors in the clinic. At the end of the webinar, we have ample time to answer questions from the audience. We encourage you to participate by submitting your questions in real-time during the webinar or beforehand at this link: https://forms.gle/gmwcz5TUFWLGPPmF7.


Recent Webinars

Safety of sports participation for patients with inherited arrhythmias and cardiomyopathies

Susan Etheridge, MD
June 19, 2019
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Please join us on June 5th to learn from Dr. Etheridge as she discusses risks and benefits of exercise in the management of patients with genetic heart rhythm disorders.

Susan Etheridge, MD, is Director of the Pediatric Cardiology Fellowship and Residency Program at the University of Utah School of Medicine and Primary Children’s Medical Center. Dr. Etheridge is a pediatric electrophysiologist who sees children and some adults with all forms of arrhythmic disorders, having a special interest in long QT syndrome.


State of the molecular autopsy

Michael J. Ackerman, MD, PhD
June 05, 2019
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Please join us on June 5th to learn from Dr. Ackerman as he discusses postmortem genetic testing for sudden cardiac death in the young.

Michael J. Ackerman, MD, PhD, is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. He is a consultant in cardiovascular diseases and pediatric cardiology and serves as Director of Mayo Clinic’s Long QT Syndrome/Genetic Heart Rhythm Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory.


Genetic testing in cardiovascular medicine: Who and why?

Robert Nussbaum, MD
November 13, 2018
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Please join us on November 13th to learn from Dr. Nussbaum as he discusses the clinical utility of genetic testing for heritable cardiovascular conditions, including arrhythmias, cardiomyopathies, familial hypercholesterolemia, and aortic aneurysms.

Prior to joining Invitae, Dr. Nussbaum was chief of the Division of Genomic Medicine at UCSF Health, where he also held leadership roles in the Cancer Genetics and Prevention Program and the Program in Cardiovascular Genetics. Dr. Nussbaum is a board-certified internist and medical geneticist who holds a B.S. in applied mathematics from Harvard College and an M.D. from Harvard Medical School in the Harvard-MIT joint program in Health Sciences and Technology. He completed his residency in internal medicine at Barnes-Jewish Hospital and a fellowship in medical genetics at the Baylor College of Medicine.


Clinical prevalence and properties of deletions and duplications within disease genes

Swaroop Aradhya, PhD, FACMG
July 24, 2018
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Please join us on July 24th to learn from Dr. Aradhya as he discusses a study recently published by Invitae in Genetics in Medicine, showing that intragenic copy number variants (CNVs; deletions/duplications) are a substantial proportion of clinically important variants reported in genetic testing across diverse clinical specialties.

Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist, who has helped to shape professional practices and technological applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information.


Targeted treatments for the genetic epilepsies: Clinical cases

Katie Angione, MD, CGC, Children’s Hospital Colorado and Lacey Smith, MD, CGC, Boston Children’s Hospital
December 13, 2017
Series: Partnership Webinars
View Recording

Please join us on December 13th to learn from genetic counselors Katie Angione and Lacey Smith as they discuss clinical cases in the management and targeted treatment of genetic childhood epilepsies.

 

Katie Angione, MS, CGC, is a certified genetic counselor in the Neurology Department at Children’s Hospital Colorado. She provides genetic counseling services to patients and families with neurological disorders, with a primary focus on syndromic and non-syndromic epilepsy disorders. She participates in the Tuberous Sclerosis and Rett Syndrome multidisciplinary clinics, as well as the diagnostic Neurogenetics Clinic at CHCO. In addition to her clinical work, Katie is involved in research studies with the goal of furthering the understanding of epilepsy genetics. This currently includes participation in the Epilepsy Genetics Initiative study based at Columbia University, as well as multiple internal studies investigating the genetic etiology of Doose syndrome. Katie is also a member of EpiGC, a consortium of genetic counselors whose aim is to promote quality services to patients and families affected by epilepsy.

 

Lacey Smith, MS, CGC, is a licensed genetic counselor in the Epilepsy Genetics Program at Boston Children’s Hospital. She provides genetic counseling services to patients and families seen in the clinical consultation program. In addition to her clinical work, she developed and coordinates the PCDH19 patient registry at BCH and is involved in a variety of research projects and collaborations that aim to better understand the genetic contributions to epilepsy. Lacey is a member of EpiGC, a consortium of genetic counselors whose aim is to promote quality services to patients and families affected by epilepsy, and is a co-author of the upcoming NSGC practice guideline for genetic testing in epilepsy.

 

Panels and exomes: Diagnostic yield and detection of childhood epilepsy

Joseph Sullivan, MD, UCSF and Swaroop Aradhya, PhD, Invitae
November 13, 2017
Series: Partnership Webinars
View Recording

Please join us on November 13th to learn from Dr. Joseph Sullivan and Dr. Swaroop Aradhya as they discuss diagnostic yield in the detection of childhood epilepsy.

Dr. Joseph Sullivan, a pediatric neurologist, is the director of the UCSF Pediatric Epilepsy Center, where he specializes in the evaluation and treatment of children with epilepsy, in particular the treatment of refractory epilepsy that does not respond to medications. He also has a specialized Dravet/PCDH19 clinic, where he follows a large cohort of children with these types of genetic epilepsy. Dr. Sullivan is a member of the Pediatric Epilepsy Consortium, which brings together pediatric epilepsy centers across the United States to collaborate on various studies in pediatric epilepsy. Sullivan has been involved in research using functional magnetic resonance imaging (fMRI) to identify areas in the brain that control language in children with epilepsy. Prior to joining UCSF Benioff Children's Hospital in 2007, Dr. Sullivan completed residencies in pediatrics at Children's Memorial Hospital at Northwestern University where he spent an additional year as chief resident. He then completed his child neurology, clinical neurophysiology and epilepsy training at Children's Hospital of Philadelphia.

Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine.


Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Keith Nykamp, PhD, Invitae
November 08, 2017
Series: Leading with Science
View Recording

Join us for a live webinar on Invitae’s innovative approach to genetic variant classification, recently published in the October issue of Genetics in Medicine.

The program, intended for genetic counselors, geneticists, and other healthcare providers interested in variant classification, will help you:

  • Understand how Invitae applies the ACMG–AMP variant classification framework and further refines its application for consistency
  • Categorize and prioritize evidence for comprehensive interpretation of sequence variants
  • Identify useful data sources for confident variant classification
  • Systematically and rigorously apply semi-quantitative evidence criteria when classifying variants from benign to pathogenic

Dr. Keith Nykamp has been studying the influence of genetic variation on phenotype in academic and diagnostic settings for more than 15 years. He’s been with Invitae since 2013 and leads the effort to establish and maintain a reliable evidence-based system for variant classification. Before joining Invitae, Dr. Nykamp worked as a molecular geneticist and director of next-generation sequencing at Prevention Genetics.


The future of genetic testing: Making genetic information affordable and accessible to all

Randy Scott, PhD, Chairman of the Board, Invitae and Genome Medical
October 30, 2017
Series: Partnership Webinars
View Recording

Please join us on October 30th as Dr. Randy Scott discusses the future of genetic testing and how we can make genetic information affordable and accessible to all.

Randy Scott is executive chairman of Invitae and Genome Medical. Prior to this position, Randy served as chief executive officer at Invitae. Prior to co-founding Invitae, Randy served as Genomic Health's Chief Executive Officer from 2000 until 2009 and Executive Chairman until 2012. Under Randy's leadership, Genomic Health developed and launched two revolutionary cancer diagnostics tests. At Incyte, Randy served in various roles from 1991 through 2000, including Chairman of the Board, President and Chief Scientific Officer. Randy holds a B.S. in Chemistry from Emporia State University and a Ph.D. in Biochemistry from the University of Kansas. Randy is a prominent thought leader in the genomics and sequencing space and is the author of more than 40 publications, 20 patents, and is the recipient of numerous awards, which highlight his leadership in the personalized medicine space.


A diagnostic odyssey: Why early and accurate genetic testing in epilepsy is so important

Brenda Porter, MD, PhD (Stanford University) and Kim Nye (TESS Research Foundation)
October 25, 2017
Series: Partnership Webinars
View Recording

Please join our webinar on October 25th to learn from Dr. Brenda Porter and Ms. Kim Nye as they discuss the importance of early and accurate genetic testing in epilepsy.

Dr. Brenda Porter is an Associate Professor of Neurology at Stanford University. She received her MD and PhD from Washington University in St. Louis. Dr. Porter developed an interest in difficult to treat epilepsy, with a special focus on children with neuronal developmental disorders leading to epilepsy such as tuberous sclerosis and focal cortical dysplasia. Her clinical research focuses on improving outcomes in epilepsy surgery, increasing parental understanding of epilepsy and the role epilepsy surgery plays in treatment. Currently she sits on the National Institutes of Health’s (NIH) Neuroscience Training (NST-1) study section and has helped Citizens United for Research in Epilepsy (CURE) and the Tuberous Sclerosis Alliance with their grant reviews.

Kim Nye is the President and Founder of TESS Research Foundation, a nonprofit organization that aims to find better treatment options for SLC13A5 Deficiency. Kim holds a BA from Princeton University. She lives in California with her husband, Zach, and their four children: Tessa, Lily, Maggie, and Colton. Both Tessa and Colton have SLC13A5 Deficiency. Kim was a graduate student at Oxford University when she gave birth to her first daughter, Tessa. When Tessa began having unrelenting seizures shortly after birth, Kim began searching for the underlying cause. This was the start of a 10-year diagnostic odyssey. In addition to her work at TESS Research Foundation, Kim serves as a Lay Reviewer for CURE and is on the Steering Committee for the Rare Epilepsy Network.